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NM_000335.5(SCN5A):c.688A>G (p.Ile230Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003541031.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.688A>G (p.Ile230Val)]

NM_000335.5(SCN5A):c.688A>G (p.Ile230Val)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.688A>G (p.Ile230Val)
HGVS:
  • NC_000003.12:g.38613758T>C
  • NG_008934.1:g.40915A>G
  • NM_000335.5:c.688A>GMANE SELECT
  • NM_001099404.2:c.703+217A>G
  • NM_001099405.2:c.703+217A>G
  • NM_001160160.2:c.703+217A>G
  • NM_001160161.2:c.703+217A>G
  • NM_001354701.2:c.703+217A>G
  • NM_198056.3:c.688A>G
  • NP_000326.2:p.Ile230Val
  • NP_932173.1:p.Ile230Val
  • NP_932173.1:p.Ile230Val
  • LRG_289t1:c.688A>G
  • LRG_289:g.40915A>G
  • LRG_289p1:p.Ile230Val
  • NC_000003.11:g.38655249T>C
  • NM_198056.2:c.688A>G
  • Q14524:p.Ile230Val
Protein change:
I230V
Links:
UniProtKB: Q14524#VAR_026347; dbSNP: rs199473074
NCBI 1000 Genomes Browser:
rs199473074
Molecular consequence:
  • NM_001099404.2:c.703+217A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099405.2:c.703+217A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001160160.2:c.703+217A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001160161.2:c.703+217A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354701.2:c.703+217A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000335.5:c.688A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.688A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001380967Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 18, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Natural history of Brugada syndrome: insights for risk stratification and management.

Priori SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Giordano U, Bloise R, Giustetto C, De Nardis R, Grillo M, Ronchetti E, Faggiano G, Nastoli J.

Circulation. 2002 Mar 19;105(11):1342-7.

PubMed [citation]
PMID:
11901046

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001380967.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces isoleucine with valine at codon 230 of the SCN5A protein (p.Ile230Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has been observed in an individual affected with Brugada syndrome (PMID: 11901046). ClinVar contains an entry for this variant (Variation ID: 68035). This variant is present in population databases (rs199473074, ExAC 0.01%).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024